46 posts · 11,859 views
BHD Research Blog is the official blog of BHDSyndrome.org, the primary online resource for anyone interested in Birt-Hogg-Dubé Syndrome, a rare genetic condition linked to benign skin growths, collapsed lung and kidney cancers. In the BHD Research Blog, we focus on analysing current research in BHD and related fields, as well as considering wider issues relating to rare diseases.
Sort by: Latest Post, Most Popular
View by: Condensed, Full
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
Pulmonary cysts and pneumothorax are key indicators of BHD syndrome. However, very little is known about the pathophysiology of these lung cysts. A recent Japanese study of 9 families has now shown that not only are BHD cysts different from … Continue reading →... Read more »
Furuya M, Tanaka R, Koga S, Yatabe Y, Gotoda H, Takagi S, Hsu YH, Fujii T, Okada A, Kuroda N.... (2012) Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families. The American journal of surgical pathology, 36(4), 589-600. PMID: 22441547
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
This week we introduce Lindsay Middelton R.N., C.G.C, who is a genetic counsellor with the National Cancer Institute (NCI) of the National Institutes of Health, USA. Lindsay is part of the Urologic Oncology Branch at the NCI, which treats patients … Continue reading →... Read more »
Middelton L, Dimond E, Calzone K, Davis J, & Jenkins J. (2002) The role of the nurse in cancer genetics. Cancer nursing, 25(3), 196-206. PMID: 12040228
Singer EA, Bratslavsky G, Middelton L, Srinivasan R, & Linehan WM. (2011) Impact of genetics on the diagnosis and treatment of renal cancer. Current urology reports, 12(1), 47-55. PMID: 21128028
Zbar B, Glenn G, Merino M, Middelton L, Peterson J, Toro J, Coleman J, Pinto P, Schmidt LS, Choyke P.... (2007) Familial renal carcinoma: clinical evaluation, clinical subtypes and risk of renal carcinoma development. The Journal of urology, 177(2), 461. PMID: 17222609
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
Mutations in genes such as FLCN and VHL are implicated in the development of renal cell carcinoma (RCC). However, DNA methylation and transcriptional silencing at gene promoters can also be involved, as is the case with RASSF1A, which is rarely … Continue reading →... Read more »
Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S.... (2003) Inactivation of BHD in sporadic renal tumors. Cancer research, 63(15), 4583-7. PMID: 12907635
Morris MR, & Maher ER. (2010) Epigenetics of renal cell carcinoma: the path towards new diagnostics and therapeutics. Genome medicine, 2(9), 59. PMID: 20815920
Ricketts CJ, Morris MR, Gentle D, Brown M, Wake N, Woodward ER, Clarke N, Latif F, & Maher ER. (2012) Genome-wide CpG island methylation analysis implicates novel genes in the pathogenesis of renal cell carcinoma. Epigenetics : official journal of the DNA Methylation Society, 7(3), 278-90. PMID: 22430804
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
Around 30 patients and family members participated in the Fourth BHD Symposium in Cincinnati, Ohio last month. Such a record turnout had a significant effect on the flow of the Symposium – for example, by providing researchers with many opportunities … Continue reading →... Read more »
Taveira-DaSilva, A., Burstein, D., Hathaway, O., Fontana, J., Gochuico, B., Avila, N., & Moss, J. (2009) Pneumothorax After Air Travel in Lymphangioleiomyomatosis, Idiopathic Pulmonary Fibrosis, and Sarcoidosis. Chest, 136(3), 665-670. DOI: 10.1378/chest.08-3034
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
A blog post from January last year described a paper by Purdue et al. (2011) in which a genome-wide association study (GWAS) identified two renal cell carcinoma (RCC) susceptibility loci within HIF2α (on chromosome 2) and an uncharacterised intergenic region (on … Continue reading →... Read more »
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536
Purdue MP, Johansson M, Zelenika D, Toro JR, Scelo G, Moore LE, Prokhortchouk E, Wu X, Kiemeney LA, Gaborieau V.... (2011) Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nature genetics, 43(1), 60-5. PMID: 21131975
Schödel J, Bardella C, Sciesielski LK, Brown JM, Pugh CW, Buckle V, Tomlinson IP, Ratcliffe PJ, & Mole DR. (2012) Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression. Nature genetics, 44(4), 420-5. PMID: 22406644
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
Recent advances in DNA sequencing have led to the discovery of genes and mutations which drive tumourigenesis. In this blog, we have previously described papers by Varela et al. (2011), Dalgliesh et al. (2011) and Guo et al. (2011) which … Continue reading →... Read more »
Xu X, Hou Y, Yin X, Bao L, Tang A, Song L, Li F, Tsang S, Wu K, Wu H.... (2012) Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor. Cell, 148(5), 886-95. PMID: 22385958
Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J.... (2011) Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature, 469(7331), 539-42. PMID: 21248752
Dalgliesh GL, Furge K, Greenman C, Chen L, Bignell G, Butler A, Davies H, Edkins S, Hardy C, Latimer C.... (2010) Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature, 463(7279), 360-3. PMID: 20054297
Guo G, Gui Y, Gao S, Tang A, Hu X, Huang Y, Jia W, Li Z, He M, Sun L.... (2011) Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. Nature genetics, 44(1), 17-9. PMID: 22138691
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
Our lab-profile for this month introduces the work of Professor Arnim Pause, an Associate Professor in the Department of Biochemistry and a Canada Research Chair in Molecular Oncology at McGill University, Canada. Much of Professor Pause’s early work involved researching … Continue reading →... Read more »
Dostie J, Ferraiuolo M, Pause A, Adam SA, & Sonenberg N. (2000) A novel shuttling protein, 4E-T, mediates the nuclear import of the mRNA 5' cap-binding protein, eIF4E. The EMBO journal, 19(12), 3142-56. PMID: 10856257
Gingras MC, Zhang YL, Kharitidi D, Barr AJ, Knapp S, Tremblay ML, & Pause A. (2009) HD-PTP is a catalytically inactive tyrosine phosphatase due to a conserved divergence in its phosphatase domain. PloS one, 4(4). PMID: 19340315
Hudon V, Sabourin S, Dydensborg AB, Kottis V, Ghazi A, Paquet M, Crosby K, Pomerleau V, Uetani N, & Pause A. (2010) Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin. Journal of medical genetics, 47(3), 182-9. PMID: 19843504
Iwai K, Yamanaka K, Kamura T, Minato N, Conaway RC, Conaway JW, Klausner RD, & Pause A. (1999) Identification of the von Hippel-lindau tumor-suppressor protein as part of an active E3 ubiquitin ligase complex. Proceedings of the National Academy of Sciences of the United States of America, 96(22), 12436-41. PMID: 10535940
Kurban G, Duplan E, Ramlal N, Hudon V, Sado Y, Ninomiya Y, & Pause A. (2008) Collagen matrix assembly is driven by the interaction of von Hippel-Lindau tumor suppressor protein with hydroxylated collagen IV alpha 2. Oncogene, 27(7), 1004-12. PMID: 17700531
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536
Tedbury P, Welbourn S, Pause A, King B, Griffin S, & Harris M. (2011) The subcellular localization of the hepatitis C virus non-structural protein NS2 is regulated by an ion channel-independent function of the p7 protein. The Journal of general virology, 92(Pt 4), 819-30. PMID: 21177929
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
Hypoxia Inducible Factor (HIF) regulates key processes within the cell and its dysregulation is involved in the development of renal cell carcinoma (RCC), including those associated with VHL, HLRCC, TSC and also BHD syndrome. HIF is a potential therapeutic target … Continue reading →... Read more »
Schietke RE, Hackenbeck T, Tran M, Günther R, Klanke B, Warnecke CL, Knaup KX, Shukla D, Rosenberger C, Koesters R.... (2012) Renal Tubular HIF-2α Expression Requires VHL Inactivation and Causes Fibrosis and Cysts. PloS one, 7(1). PMID: 22299048
Rosenberger C, Mandriota S, Jürgensen JS, Wiesener MS, Hörstrup JH, Frei U, Ratcliffe PJ, Maxwell PH, Bachmann S, & Eckardt KU. (2002) Expression of hypoxia-inducible factor-1alpha and -2alpha in hypoxic and ischemic rat kidneys. Journal of the American Society of Nephrology : JASN, 13(7), 1721-32. PMID: 12089367
Adam J, Hatipoglu E, O'Flaherty L, Ternette N, Sahgal N, Lockstone H, Baban D, Nye E, Stamp GW, Wolhuter K.... (2011) Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling. Cancer cell, 20(4), 524-37. PMID: 22014577
Ooi A, Wong JC, Petillo D, Roossien D, Perrier-Trudova V, Whitten D, Min BW, Tan MH, Zhang Z, Yang XJ.... (2011) An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma. Cancer cell, 20(4), 511-23. PMID: 22014576
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536
Raval RR, Lau KW, Tran MG, Sowter HM, Mandriota SJ, Li JL, Pugh CW, Maxwell PH, Harris AL, & Ratcliffe PJ. (2005) Contrasting properties of hypoxia-inducible factor 1 (HIF-1) and HIF-2 in von Hippel-Lindau-associated renal cell carcinoma. Molecular and cellular biology, 25(13), 5675-86. PMID: 15964822
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
In November last year, the 7th National Cancer Research Institute (NCRI) Cancer Conference was held in Liverpool, UK. This conference focussed on all aspects of cancer research, from basic research to clinical care. Of note, Prof. Dr. Michael Hall from … Continue reading →... Read more »
Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, Micaroni M, Chaneton B, Adam J, Hedley A.... (2011) Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature, 477(7363), 225-8. PMID: 21849978
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
Last month, our conference summary highlighted some of the work that is taking place in the field of gene therapy. Currently, many advanced gene therapy systems are derived from viruses, such as the adenovirus and lentivirus. However, these viral vectors … Continue reading →... Read more »
Kim JH, Kononenko A, Erliandri I, Kim TA, Nakano M, Iida Y, Barrett JC, Oshimura M, Masumoto H, Earnshaw WC.... (2011) Human artificial chromosome (HAC) vector with a conditional centromere for correction of genetic deficiencies in human cells. Proceedings of the National Academy of Sciences of the United States of America, 108(50), 20048-53. PMID: 22123967
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
This week we highlight the work of Dr Tim Cash, who worked on BHD syndrome as part of his PhD studies in the lab of Professor Celeste Simon at the Abramson Family Cancer Research Institute, University of Pennsylvania. Dr Cash … Continue reading →... Read more »
Cash TP, Gruber JJ, Hartman TR, Henske EP, & Simon MC. (2011) Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription. Oncogene, 30(22), 2534-46. PMID: 21258407
Hartman TR, Nicolas E, Klein-Szanto A, Al-Saleem T, Cash TP, Simon MC, & Henske EP. (2009) The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene, 28(13), 1594-604. PMID: 19234517
Lim TH, Fujikane R, Sano S, Sakagami R, Nakatsu Y, Tsuzuki T, Sekiguchi M, & Hidaka M. (2011) Activation of AMP-activated protein kinase by MAPO1 and FLCN induces apoptosis triggered by alkylated base mismatch in DNA. DNA repair. PMID: 22209521
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
DNA repair proteins appear to play a significant role in both the development and progression of renal cell carcinoma, as has been discussed in earlier blog posts from 2010 and 2011. These proteins are responsible for repairing DNA lesions caused … Continue reading →... Read more »
Komori K, Takagi Y, Sanada M, Lim TH, Nakatsu Y, Tsuzuki T, Sekiguchi M, & Hidaka M. (2009) A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA. Oncogene, 28(8), 1142-50. PMID: 19137017
Lim TH, Fujikane R, Sano S, Sakagami R, Nakatsu Y, Tsuzuki T, Sekiguchi M, & Hidaka M. (2011) Activation of AMP-activated protein kinase by MAPO1 and FLCN induces apoptosis triggered by alkylated base mismatch in DNA. DNA repair. PMID: 22209521
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
Mutations in VHL are known to be associated with the development of clear cell renal cell carcinoma (ccRCC), and recent sequencing studies have identified several genes involved in chromatin regulation that are also frequently mutated in ccRCC (Dalgliesh et al., 2010; … Continue reading →... Read more »
Dalgliesh, G., Furge, K., Greenman, C., Chen, L., Bignell, G., Butler, A., Davies, H., Edkins, S., Hardy, C., Latimer, C.... (2010) Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature, 463(7279), 360-363. DOI: 10.1038/nature08672
Guo G, Gui Y, Gao S, Tang A, Hu X, Huang Y, Jia W, Li Z, He M, Sun L.... (2011) Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. Nature genetics, 44(1), 17-9. PMID: 22138691
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536
Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J.... (2011) Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature, 469(7331), 539-42. PMID: 21248752
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
This week we would like to introduce Dr Seung-Beom Hong, a post-doctoral researcher in the lab of Professor Vera Krymskaya at the University of Pennsylvania. Dr Hong was part of the group at the NIH that helped to identify and … Continue reading →... Read more »
Hong SB, Oh H, Valera VA, Baba M, Schmidt LS, & Linehan WM. (2010) Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization. PloS one, 5(12). PMID: 21209915
Hong SB, Oh H, Valera VA, Stull J, Ngo DT, Baba M, Merino MJ, Linehan WM, & Schmidt LS. (2010) Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling. Molecular cancer, 160. PMID: 20573232
Hasumi Y, Baba M, Ajima R, Hasumi H, Valera VA, Klein ME, Haines DC, Merino MJ, Hong SB, Yamaguchi TP.... (2009) Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2. Proceedings of the National Academy of Sciences of the United States of America, 106(44), 18722-7. PMID: 19850877
Hasumi H, Baba M, Hong SB, Hasumi Y, Huang Y, Yao M, Valera VA, Linehan WM, & Schmidt LS. (2008) Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene, 415(1-2), 60-7. PMID: 18403135
Baba M, Furihata M, Hong SB, Tessarollo L, Haines DC, Southon E, Patel V, Igarashi P, Alvord WG, Leighty R.... (2008) Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. Journal of the National Cancer Institute, 100(2), 140-54. PMID: 18182616
Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL.... (2006) Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proceedings of the National Academy of Sciences of the United States of America, 103(42), 15552-7. PMID: 17028174
Hong SB, Furihata M, Baba M, Zbar B, & Schmidt LS. (2006) Vascular defects and liver damage by the acute inactivation of the VHL gene during mouse embryogenesis. Laboratory investigation; a journal of technical methods and pathology, 86(7), 664-75. PMID: 16652107
Ma W, Tessarollo L, Hong SB, Baba M, Southon E, Back TC, Spence S, Lobe CG, Sharma N, Maher GW.... (2003) Hepatic vascular tumors, angiectasis in multiple organs, and impaired spermatogenesis in mice with conditional inactivation of the VHL gene. Cancer research, 63(17), 5320-8. PMID: 14500363
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
Many studies into BHD syndrome have investigated the prevalence of pneumothorax and renal cell carcinoma amongst FLCN mutation carriers. Previous estimations of the RCC risk have varied from 6.5% to 34% (Toro et al., 2008), and for pneumothorax, from 24% … Continue reading →... Read more »
Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J.... (2005) Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. American journal of human genetics, 76(6), 1023-33. PMID: 15852235
Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B.... (2007) Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. American journal of respiratory and critical care medicine, 175(10), 1044-53. PMID: 17322109
Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA.... (2008) BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. Journal of medical genetics, 45(6), 321-31. PMID: 18234728
Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH.... (2011) Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. British journal of cancer, 105(12), 1912-9. PMID: 22146830
Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, & Merino MJ. (2002) Renal tumors in the Birt-Hogg-Dubé syndrome. The American journal of surgical pathology, 26(12), 1542-52. PMID: 12459621
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER.... (2009) Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10(12), 1199-206. PMID: 19959076
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
HLRCC, caused by mutations in FH, predisposes patients to develop papillary renal cell carcinoma. FH-deficient cells have an accumulation of fumarate, which leads to the stabilisation of HIF-α subunits and therefore an increase in HIF-α levels. An increased expression of … Continue reading →... Read more »
Adam J, Hatipoglu E, O'Flaherty L, Ternette N, Sahgal N, Lockstone H, Baban D, Nye E, Stamp GW, Wolhuter K.... (2011) Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling. Cancer cell, 20(4), 524-37. PMID: 22014577
Ooi A, Wong JC, Petillo D, Roossien D, Perrier-Trudova V, Whitten D, Min BW, Tan MH, Zhang Z, Yang XJ.... (2011) An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma. Cancer cell, 20(4), 511-23. PMID: 22014576
Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, Micaroni M, Chaneton B, Adam J, Hedley A.... (2011) Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature, 477(7363), 225-8. PMID: 21849978
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
In our last conference summary, it was noted that a number of clinical trials are underway to find an effective treatment for tuberous sclerosis complex (TSC). These trials use the mTORC1 inhibitors rapamycin and everolimus to compensate for mutations in … Continue reading →... Read more »
Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, Schmithorst VJ, Laor T, Brody AS, Bean J.... (2008) Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. The New England journal of medicine, 358(2), 140-51. PMID: 18184959
Dabora SL, Franz DN, Ashwal S, Sagalowsky A, DiMario FJ Jr, Miles D, Cutler D, Krueger D, Uppot RN, Rabenou R.... (2011) Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease. PloS one, 6(9). PMID: 21915260
Davies DM, de Vries PJ, Johnson SR, McCartney DL, Cox JA, Serra AL, Watson PC, Howe CJ, Doyle T, Pointon K.... (2011) Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clinical cancer research : an official journal of the American Association for Cancer Research, 17(12), 4071-81. PMID: 21525172
Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, Wilson KA, Byars A, Sahmoud T, & Franz DN. (2010) Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. The New England journal of medicine, 363(19), 1801-11. PMID: 21047224
McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM.... (2011) Efficacy and safety of sirolimus in lymphangioleiomyomatosis. The New England journal of medicine, 364(17), 1595-606. PMID: 21410393
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
Hypoxia inducible factor (HIF) regulates processes such as cell proliferation and metabolism, and it has been implicated in tumour growth in several disorders such as VHL and TSC. Preston et al. (2010) demonstrated that HIF-1α activity was increased in FLCN-null … Continue reading →... Read more »
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536
Barliya T, Mandel M, Livnat T, Weinberger D, & Lavie G. (2011) Degradation of HIF-1alpha under hypoxia combined with induction of Hsp90 polyubiquitination in cancer cells by hypericin: a unique cancer therapy. PloS one, 6(9). PMID: 21949677
Blank M, Mandel M, Keisari Y, Meruelo D, & Lavie G. (2003) Enhanced ubiquitinylation of heat shock protein 90 as a potential mechanism for mitotic cell death in cancer cells induced with hypericin. Cancer research, 63(23), 8241-7. PMID: 14678981
Kong X, Lin Z, Liang D, Fath D, Sang N, & Caro J. (2006) Histone deacetylase inhibitors induce VHL and ubiquitin-independent proteasomal degradation of hypoxia-inducible factor 1alpha. Molecular and cellular biology, 26(6), 2019-28. PMID: 16507982
Isaacs JS, Jung YJ, Mimnaugh EG, Martinez A, Cuttitta F, & Neckers LM. (2002) Hsp90 regulates a von Hippel Lindau-independent hypoxia-inducible factor-1 alpha-degradative pathway. The Journal of biological chemistry, 277(33), 29936-44. PMID: 12052835
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
In this month’s lab-profile we introduce Professor Maurice van Steensel, a Professor of genetic dermatology at the University Hospital Maastricht. Professor van Steensel leads a research group studying the role of FLCN in BHD syndrome and he is also a … Continue reading →... Read more »
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536
Claessens T, Weppler SA, van Geel M, Creytens D, Vreeburg M, Wouters B, & van Steensel MA. (2010) Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome. Nature reviews. Urology, 7(10), 583-7. PMID: 20842188
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER.... (2009) Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10(12), 1199-206. PMID: 19959076
by Vicki Colledge, Sanjay Thakrar, Galina Shyndriayeva in BHD Research Blog
In July, the Beatson International Cancer Conference took place at The Beatson Institute for Cancer Research in Glasgow, UK. The Beatson Institute is a Cancer Research UK-funded centre which focuses on understanding cancer cell behaviour and developing new therapies and … Continue reading →... Read more »
Cash TP, Gruber JJ, Hartman TR, Henske EP, & Simon MC. (2011) Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription. Oncogene, 30(22), 2534-46. PMID: 21258407
Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, Micaroni M, Chaneton B, Adam J, Hedley A.... (2011) Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature, 477(7363), 225-8. PMID: 21849978
Do you write about peer-reviewed research in your blog? Use ResearchBlogging.org to make it easy for your readers — and others from around the world — to find your serious posts about academic research.
If you don't have a blog, you can still use our site to learn about fascinating developments in cutting-edge research from around the world.